NM_022124.5(CDH23):c.1478G>A (p.Gly493Glu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 3, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039107.2

Allele description [Variation Report for NM_022124.5(CDH23):c.1478G>A (p.Gly493Glu)]

NM_022124.5(CDH23):c.1478G>A (p.Gly493Glu)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.5(CDH23):c.1478G>A (p.Gly493Glu)
HGVS:
  • NC_000010.11:g.71675140G>A
  • NG_008835.1:g.283194G>A
  • NM_022124.5:c.1478G>A
  • NP_071407.4:p.Gly493Glu
  • NC_000010.10:g.73434897G>A
  • c.1478G>A
Protein change:
G493E
Links:
dbSNP: rs397517308
NCBI 1000 Genomes Browser:
rs397517308
Molecular consequence:
  • NM_022124.5:c.1478G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062789Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Apr 3, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided31not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000062789.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The Gly493Glu variant in CDH23 has not been reported nor previously identified by our laboratory. This variant has not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gly493Glu variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided1not provided

Last Updated: Jun 17, 2019

Support Center